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| DDG2P v3.12 | CDH23 | Achchuthan Shanmugasundram reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17850630, 12075507, 11138009, 15829536, 11090341, 15537665; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 12, OMIM:601386, USHER SYNDROME TYPE 1D, OMIM:601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH2 | Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDH23 | Achchuthan Shanmugasundram Publications for gene: CDH23 were updated from 11090341; 15537665; 21228398; 11138009 to 21228398; 17850630; 12075507; 11138009; 15829536; 11090341; 15537665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2. Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.152 | CDH2 | Rebecca Foulger reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | CDH2 |
Rebecca Foulger gene: CDH2 was added gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31650526; 31585109 Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments |
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| DDG2P v0.2 | CDH23 | Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CDH23 |
Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1D 601067 for gene: CDH23 Publications for gene CDH23 were changed from 12075507; 15829536; 11090341; 17850630 to 11090341; 15537665; 21228398; 11138009 |
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| DDG2P v0.1 | CDH23 |
Rebecca Foulger gene: CDH23 was added gene: CDH23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH23 were set to 12075507; 15829536; 11090341; 17850630 Phenotypes for gene: CDH23 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386 |
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